학술논문
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위반 시 제재
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'학술논문'
에서 검색결과 24건 | 목록
1~20
Academic Journal
Antje Kampmeier; Elsa Leitão; Ilaria Parenti; Jasmin Beygo; Christel Depienne; Nuria C Bramswig; Tzung-Chien Hsieh; Alexandra Afenjar; Stefanie Beck-Wödl; Ute Grasshoff; Tobias B Haack; Emilia K Bijlsma; Claudia Ruivenkamp; Eva Lausberg; Miriam Elbracht; Maria K Haanpää; Hannele Koillinen; Uwe Heinrich; Imma Rost; Rami Abou Jamra; Denny Popp; Margarete Koch-Hogrebe; Kevin Rostasy; Vanesa López-González; María José Sanchez-Soler; Catarina Macedo; Ariane Schmetz; Carmen Steinborn; Sabine Weidensee; Hellen Lesmann; Felix Marbach; Pilar Caro; Christian P. Schaaf; Peter Krawitz; Dagmar Wieczorek; Frank J Kaiser; Alma Kuechler
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Academic Journal
Viktor Kožich; Bernd C Schwahn; Jitka Sokolová; Michaela Křížková; Tamas Ditroi; Jakub Krijt; Youssef Khalil; Tomáš Křížek; Tereza Vaculíková-Fantlová; Blanka Stibůrková; Philippa Mills; Peter Clayton; Kristýna Barvíková; Holger Blessing; Jolanta Sykut-Cegielska; Carlo Dionisi-Vici; Serena Gasperini; Ángeles García-Cazorla; Tobias B Haack; Tomáš Honzík; Pavel Ješina; Alice Kuster; Lucia Laugwitz; Diego Martinelli; Francesco Porta; René Santer; Guenter Schwarz; Peter Nagy
Redox Biology, Vol 58, Iss , Pp 102517- (2022)
Academic Journal
Ann-Sophie Kiesel; Lucia Laugwitz; Rebecca Buchert; Mona Grimmel; Sarah Baumann; Marc Sturm; Selina Reich; Martje G Pauly; Norbert Brüggemann; Alexander Münchau; Olga Oleksiuk; Matthis Synofzik; Tobias B Haack; Susana Peralta
Brain
Brain 148(4), e24-e28 (2025). doi:10.1093/brain/awae402
Brain 148(4), e24-e28 (2025). doi:10.1093/brain/awae402
Academic Journal
Rocio Rius; Alexander JM Blakes; Yuyang Chen; Joachim De Jonghe; Javeria R Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V Balton; Giulia Barcia; Jonathan A Bernstein; Pierre Blanc; Daniel Buchzik; Daniel G Calame; Benjamin Cogne; Charles Coutton; Chloe A Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Vanessa Geiger; Richard A Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B Haack; Hamza Hadj Abdallah; Radu Harbuz; Bertrand Isidor; Marie-Line Jacquemont; Médéric Jeanne; G. Christoph Korenke; Urania Kotzaeridou; Richard J Leventer; James R Lupski; Pierre Marijon; Kaitlin E McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Jennifer E Posey; Chloe M Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; Christel Thauvin; Julien Thevenon; Eloise Uebergang; Catherine Vincent-Delorme; Evangeline Wassmer; Matthew T Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J Sanders; Siddharth Banka; Gregory M Findlay; Daniel G MacArthur; Cas Simons; Nicola Whiffin
Academic Journal
Felix Distelmaier; Abdullah Sezer; Christina Helm; Stephan Waldmüller; Annette Seibt; Andrea Gangfuß; Heike Kölbel; Ulrike Schara-Schmidt; Deniz Yuksel; Beril Talim; Ertan Mayatepek; Stefan Nikolin; Joachim Weis; Andreas Roos; Tobias B Haack
Brain. 147:e45-e49
Academic Journal
Mathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E de Bruijn; Ana Belén Iglesias-Romero; Erica G M Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K Holtes; Stephen H Tsang; Zelia Corradi; K Bailey Freund; Stefanida Shliaga; Daan M Panneman; Rebekkah J Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D N Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Mirella T S Barboni; Miriam Bauwens; Tamar Ben-Yosef; David G Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J F Boon; Kari Branham; Alexis Ceecee Britten-Jones; Kinga M Bujakowska; Elizabeth L Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Peter Charbel Issa; Naomi Chadderton; Luísa Coutinho-Santos; Stephen P Daiger; Elfride De Baere; Berta de la Cerda; John N De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L Duncan; G Jane Farrar; Nicolas Feltgen; Lidia Fernández-Caballero; Juliana M Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C Gardner; Christian Gilissen; Kensuke Goto; Roser Gonzàlez-Duarte; Sam Griffiths-Jones; Tobias B Haack; Lonneke Haer-Wigman; Alison J Hardcastle; Takaaki Hayashi; Elise Héon; Alexander Hoischen; Josephine P Holtan; Carel B Hoyng; Manuel Benjamin B Ibanez; Chris F Inglehearn; Takeshi Iwata; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Krisztina Knézy; Caroline C W Klaver; Robert K Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M Lamey; Bart P Leroy; María Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Rina Leibu; Siying Lin; Petra Liskova; Irma Lopez; Victor R de J López-Rodríguez; Omar A Mahroo; Gaël Manes; Martin McKibbin; Terri L McLaren; Isabelle Meunier; Michel Michaelides; José M Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A Pierce; Emily Place; Raj Ramesar; Florence Andrée Rasquin; Gillian I Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Eddera; Ataf H Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M Santos; Margherita Scarpato; Hendrik P N Scholl; Dror Sharon; Sabrina Giovanna Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Katarina Stingl; Akiko Suga; Lori S Sullivan; Viktória Szabó; Jacek P Szaflik; Gita Taurina; Carmel Toomes; Viet H Tran; Miltiadis K Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Joseph van Aerschot; L. Ingeborgh van den Born; Andrew R Webster; Laura Whelan; Bernd Wissinger; Georgia G Yioti; Kazutoshi Yoshitake; Juan C Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I Jacob; Frans P M Cremers; Winston Lee; Jamie M Ellingford; David Stanek; Carlo Rivolta; Susanne Roosing
medRxiv
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P, Blanco-Kelly, F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones, A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S, Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths-Jones, S, Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones, K, Kalatzis, V, Kamakari, S, Karali, M, Kellner, U, Knézy, K, Klaver, C C W, Koenekoop, R K, Kohl, S, Kominami, T, Kühlewein, L, Lamey, T M, Leroy, B P, Martín-Gutiérrez, M P, Martins, N, Mauring, L, Leibu, R, Lin, S, Liskova, P, Lopez, I, López-Rodríguez, V R D J, Mahroo, O A, Manes, G, McKibbin, M, McLaren, T L, Meunier, I, Michaelides, M, Millán, J M, Mizobuchi, K, Mukherjee, R, Nagy, Z Z, Neveling, K, Ołdak, M, Oorsprong, M, Pan, Y, Papachristou, A, Percesepe, A, Pfau, M, Pierce, E A, Place, E, Ramesar, R, Rasquin, F A, Rice, G I, Roberts, L, Rodríguez-Hidalgo, M, Ruiz-Eddera, J, Sabir, A H, Sajiki, A F, Sánchez-Barbero, A I, Sarma, A S, Sangermano, R, Santos, C M, Scarpato, M, Scholl, H P N, Sharon, D, Signorini, S G, Simonelli, F, Sousa, A B, Stefaniotou, M, Stingl, K, Suga, A, Sullivan, L S, Szabó, V, Szaflik, J P, Taurina, G, Toomes, C, Tran, V H, Tsilimbaris, M K, Tsoka, P, Vaclavik, V, Vajter, M, Valeina, S, Valente, E M, Valentine, C, Valero, R, van Aerschot, J, van den Born, L I, Webster, A R, Whelan, L, Wissinger, B, Yioti, G G, Yoshitake, K, Zenteno, J C, Zeuli, R, Zuleger, T, Landau, C, Jacob, A I, Cremers, F P M, Lee, W, Ellingford, J M, Stanek, D, Rivolta, C & Roosing, S 2025 'De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa' medRxiv, medRxiv. https://doi.org/10.1101/2025.01.06.24317169
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P, Blanco-Kelly, F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones, A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S, Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths-Jones, S, Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones, K, Kalatzis, V, Kamakari, S, Karali, M, Kellner, U, Knézy, K, Klaver, C C W, Koenekoop, R K, Kohl, S, Kominami, T, Kühlewein, L, Lamey, T M, Leroy, B P, Martín-Gutiérrez, M P, Martins, N, Mauring, L, Leibu, R, Lin, S, Liskova, P, Lopez, I, López-Rodríguez, V R D J, Mahroo, O A, Manes, G, McKibbin, M, McLaren, T L, Meunier, I, Michaelides, M, Millán, J M, Mizobuchi, K, Mukherjee, R, Nagy, Z Z, Neveling, K, Ołdak, M, Oorsprong, M, Pan, Y, Papachristou, A, Percesepe, A, Pfau, M, Pierce, E A, Place, E, Ramesar, R, Rasquin, F A, Rice, G I, Roberts, L, Rodríguez-Hidalgo, M, Ruiz-Eddera, J, Sabir, A H, Sajiki, A F, Sánchez-Barbero, A I, Sarma, A S, Sangermano, R, Santos, C M, Scarpato, M, Scholl, H P N, Sharon, D, Signorini, S G, Simonelli, F, Sousa, A B, Stefaniotou, M, Stingl, K, Suga, A, Sullivan, L S, Szabó, V, Szaflik, J P, Taurina, G, Toomes, C, Tran, V H, Tsilimbaris, M K, Tsoka, P, Vaclavik, V, Vajter, M, Valeina, S, Valente, E M, Valentine, C, Valero, R, van Aerschot, J, van den Born, L I, Webster, A R, Whelan, L, Wissinger, B, Yioti, G G, Yoshitake, K, Zenteno, J C, Zeuli, R, Zuleger, T, Landau, C, Jacob, A I, Cremers, F P M, Lee, W, Ellingford, J M, Stanek, D, Rivolta, C & Roosing, S 2025 'De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa' medRxiv, medRxiv. https://doi.org/10.1101/2025.01.06.24317169
Academic Journal
Ralf A Husain; Xinfu Jiao; J Christopher Hennings; Jan Giesecke; Geeta Palsule; Stefanie Beck-Wödl; Dina Osmanović; Kathrine Bjørgo; Asif Mir; Muhammad Ilyas; Saad M Abbasi; Stephanie Efthymiou; Natalia Dominik; Reza Maroofian; Henry Houlden; Julia Rankin; Alistair T Pagnamenta; Marwan Nashabat; Waleed Altwaijri; Majid Alfadhel; Muhammad Umair; Ebtissal Khouj; William Reardon; Ayman W El-Hattab; Mohammed Mekki; Gunnar Houge; Christian Beetz; Peter Bauer; Audrey Putoux; Gaetan Lesca; Damien Sanlaville; Fowzan S Alkuraya; Robert W Taylor; Hans-Joachim Mentzel; Christian A Hübner; Peter Huppke; Ronald P Hart; Tobias B Haack; Megerditch Kiledjian; Ignacio Rubio
Brain. 147:1197-1205
Academic Journal
Gul Nazmina; Amjad Khan; Jiuhong Jiang; Zhichao Miao; Shahid Niaz Khan; Muhammad Ismail Khan; Abdul Haleem Shah; Ayesha Haleem Shah; Muhammad Khisroon; Tobias B Haack
Clinical Genetics. 105:423-429
Academic Journal
Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka; Solve-RD consortium; Siddharth; Lohmann, Katja; Ossowski Stephan; Solve-RD consortium: Alfons Macaya; Belén Pérez-Dueñas; Adam Jackson; Giovanni Stevanin; Jean-Madeleine de Sainte Agathe; Markéta Havlovicová; Rita Horvath; Michele Pinelli; Nienke J H van Os; Bart P C van de Warrenburg; Anne-Sophie Denommé-Pichon; Marco Savarese; Mridul Johari; Bruno Dallapiccola; Marco Tartaglia; Martje G Pauly; Anna Katharina Sommer; Tobias B Haack; Ana Töpf; Lacombe Didier; Chiara Fallerini; Alessandra Renieri; Patrick F Chinnery; Daniel Natera-de Benito; Andres Nascimento; Aurélien Trimouille; Francina Munell; Anna Marcé-Grau; Ben Yaou Rabah; Gisèle Bonne; Liedewei Van de Vondel
Eur J Hum Genet
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G, Agathe, J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G, Agathe, J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Academic Journal
Nicole Weisschuh; Pascale Mazzola; Theresia Zuleger; Karin Schaeferhoff; Laura Kühlewein; Friederike Kortüm; Dennis Witt; Alexandra Liebmann; Ruth Falb; Lisa Pohl; Milda Reith; Lara G Stühn; Miriam Bertrand; Amelie Müller; Nicolas Casadei; Olga Kelemen; Carina Kelbsch; Christoph Kernstock; Paul Richter; Francoise Sadler; German Demidov; Leon Schütz; Jakob Admard; Marc Sturm; Ute Grasshoff; Felix Tonagel; Tilman Heinrich; Fadi Nasser; Bernd Wissinger; Stephan Ossowski; Susanne Kohl; Olaf Riess; Katarina Stingl; Tobias B Haack
J Med Genet
Academic Journal
Zhigang Liu; Baozhong Xin; Iris N Smith; Valerie Sency; Julia Szekely; Anna Alkelai; Alan Shuldiner; Stephanie Efthymiou; Farrah Rajabi; Stephanie Coury; Catherine A Brownstein; Sabine Rudnik-Schöneborn; Ange-Line Bruel; Julien Thevenon; Shimriet Zeidler; Parul Jayakar; Axel Schmidt; Kirsten Cremer; Hartmut Engels; Sophia O Peters; Maha S Zaki; Ruizhi Duan; Changlian Zhu; Yiran Xu; Chao Gao; Tania Sepulveda-Morales; Reza Maroofian; Issam A Alkhawaja; Mariam Khawaja; Hunaida Alhalasah; Henry Houlden; Jill A Madden; Valentina Turchetti; Dana Marafi; Pankaj B Agrawal; Ulrich Schatz; Ari Rotenberg; Joshua Rotenberg; Grazia M S Mancini; Somayeh Bakhtiari; Michael Kruer; Isabelle Thiffault; Steffen Hirsch; Maja Hempel; Lara G Stühn; Tobias B Haack; Jennifer E Posey; James R Lupski; Hyunpil Lee; Nicholas B Sarn; Charis Eng; Claudia Gonzaga-Jauregui; Bin Zhang; Heng Wang
Human Molecular Genetics. 32:2981-2995
Academic Journal
James Fasham; Antje K Huebner; Lutz Liebmann; Reham Khalaf-Nazzal; Reza Maroofian; Nderim Kryeziu; Saskia B Wortmann; Joseph S Leslie; Nishanka Ubeyratna; Grazia M S Mancini; Marjon van Slegtenhorst; Martina Wilke; Tobias B Haack; Hanan E Shamseldin; Joseph G Gleeson; Mohamed Almuhaizea; Imad Dweikat; Bassam Abu-Libdeh; Muhannad Daana; Maha S Zaki; Matthew N Wakeling; Lucy McGavin; Peter D Turnpenny; Fowzan S Alkuraya; Henry Houlden; Peter Schlattmann; Kai Kaila; Andrew H Crosby; Emma L Baple; Christian A Hübner
Brain
Brain, 146, 11, pp. 4547-4561
Brain, 146, 11, pp. 4547-4561
Academic Journal
Tim W Rattay; Maximilian Völker; Maren Rautenberg; Christoph Kessler; Isabel Wurster; Natalie Winter; Tobias B Haack; Tobias Lindig; Holger Hengel; Matthis Synofzik; Rebecca Schüle; Peter Martus; Ludger Schöls
Brain 146(3), 1093-1102 (2023). doi:10.1093/brain/awac155
Academic Journal
Sinja Kieninger; Ting Xiao; Nicole Weisschuh; Susanne Kohl; Klaus Rüther; Peter Michael Kroisel; Tobias Brockmann; Steffi Knappe; Ulrich Kellner; Wolf Lagrèze; Pascale Mazzola; Tobias B Haack; Bernd Wissinger; Felix Tonagel
J Med Genet
Academic Journal
Marie Coutelier; Maxime Jacoupy; Alexandre Janer; Flore Renaud; Nicolas Auger; Ganapathi-Varma Saripella; François Ancien; Fabrizio Pucci; Marianne Rooman; Dimitri Gilis; Roxanne Larivière; Nicolas Sgarioto; Rémi Valter; Léna Guillot-Noel; Isabelle Le Ber; Sabrina Sayah; Perrine Charles; Astrid Nümann; Martje G Pauly; Christoph Helmchen; Natalie Deininger; Tobias B Haack; Bernard Brais; Alexis Brice; David-Alexandre Trégouët; Khalid H El Hachimi; Eric A Shoubridge; Alexandra Durr; Giovanni Stevanin
Brain. 145:1519-1534
Academic Journal
Ruth J Falb; Amelie J Müller; Wolfram Klein; Mona Grimmel; Ute Grasshoff; Stephanie Spranger; Petra Stöbe; Darja Gauck; Alma Kuechler; Nicola Dikow; Eva M C Schwaibold; Christoph Schmidt; Luisa Averdunk; Rebecca Buchert; Tilman Heinrich; Natalia Prodan; Joohyun Park; Martin Kehrer; Marc Sturm; Olga Kelemen; Silke Hartmann; Denise Horn; Dirk Emmerich; Nina Hirt; Armin Neumann; Glen Kristiansen; Ulrich Gembruch; Susanne Haen; Reiner Siebert; Sabine Hentze; Markus Hoopmann; Stephan Ossowski; Stephan Waldmüller; Stefanie Beck-Wödl; Dieter Gläser; Ismail Tekesin; Felix Distelmaier; Olaf Riess; Karl-Oliver Kagan; Andreas Dufke; Tobias B Haack
J Med Genet
Academic Journal
Lucia Laugwitz; Annette Seibt; Diran Herebian; Susana Peralta; Imke Kienzle; Rebecca Buchert; Ruth Falb; Darja Gauck; Amelie Müller; Mona Grimmel; Stefanie Beck-Woedel; Jan Kern; Karim Daliri; Pegah Katibeh; Katharina Danhauser; Steffen Leiz; Viola Alesi; Fabian Baertling; Gessica Vasco; Robert Steinfeld; Matias Wagner; Ahmet Okay Caglayan; Hakan Gumus; Margit Burmeister; Ertan Mayatepek; Diego Martinelli; Parag Mohan Tamhankar; Vasundhara Tamhankar; Pascal Joset; Katharina Steindl; Anita Rauch; Penelope E Bonnen; Tawfiq Froukh; Samuel Groeschel; Ingeborg Krägeloh-Mann; Tobias B Haack; Felix Distelmaier
J. Med. Genet. 59, 878–887 (2022)
Academic Journal
Anne Gregor; Tanja Meerbrei; Thorsten Gerstner; Annick Toutain; Sally Ann Lynch; Karen Stals; Caroline Maxton; Johannes R Lemke; John A Bernat; Hannah M Bombei; Nicola Foulds; David Hunt; Alma Kuechler; Jasmin Beygo; Petra Stöbe; Arjan Bouman; Maria Palomares-Bralo; Fernando Santos-Simarro; Sixto Garcia-Minaur; Marta Pacio-Miguez; Bernt Popp; Georgia Vasileiou; Moritz Hebebrand; André Reis; Sarah Schuhmann; Mandy Krumbiegel; Natasha J Brown; Peter Sparber; Lyusya Melikyan; Liudmila Bessonova; Tatiana Cherevatova; Artem Sharkov; Natalia Shcherbakova; Tabib Dabir; Usha Kini; Eva M C Schwaibold; Tobias B Haack; Marta Bertoli; Sabine Hoffjan; Ruth Falb; Marwan Shinawi; Heinrich Sticht; Christiane Zweier
Hum Mol Genet
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Human Molecular Genetics
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Human Molecular Genetics
Academic Journal
Korbinian M Riedhammer; Sylvia Stockler; Rafal Ploski; Maren Wenzel; Burkhard Adis-Dutschmann; Uwe Ahting; Bader Alhaddad; Astrid Blaschek; Tobias B Haack; Robert Kopajtich; Jessica Lee; Victor Murcia Pienkowski; Agnieszka Pollak; Krystyna Szymanska; Maja Tarailo-Graovac; Robin van der Lee; Clara D van Karnebeek; Thomas Meitinger; Ingeborg Krägeloh-Mann; Katharina Vill
Brain, 144, pp. 411-419
Academic Journal
Stefanie Brock; Tim Vanderhasselt; Sietske Vermaning; Kathelijn Keymolen; Luc Régal; Romina Romaniello; Dagmar Wieczorek; Tim Matthias Storm; Karin Schaeferhoff; Ute Hehr; Alma Kuechler; Ingeborg Krägeloh-Mann; Tobias B Haack; Esmee Kasteleijn; Rachel Schot; Grazia Maria Simonetta Mancini; Richard Webster; Shekeeb Mohammad; Richard J Leventer; Ghayda Mirzaa; William B Dobyns; Nadia Bahi-Buisson; Marije Meuwissen; Anna C Jansen; Katrien Stouffs
J Med Genet
Journal of medical genetics
Journal of medical genetics
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